Survey on patient knowledge and manifestations of congenital aniridia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on congenital aniridia, a genetic condition characterized by the absence of the iris and various eye and systemic manifestations. It aims to gather information through a survey designed by ophthalmologists at Hôpital Necker-Enfants Malades, assessing both the patients' understanding of their condition and the range of symptoms they experience. The survey will be completed once by eligible patients or their guardians, providing valuable insights into the disease's impact on quality of life and awareness.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Any patient ≥ 18 years old with congenital aniridia and able to respond independently to the study survey,
* or patients under 18 years old with congenital aniridia, whose parents can answer the study survey,
* adult patients or holders of parental authority and minor patients informed and not opposed to participation in the study.

Exclusion Criteria:

\- Patients with neurological disorders preventing them from answering the survey, except in the case of minor patients, if the parents can answer for the patient.

Where it's running

• Hôpital Necker-Enfants Malades
  Paris, France Recruiting

Study contacts

• Principal investigator: Alejandra Daruich, MD, PhD — Assistance Publique - Hôpitaux de Paris
• Study coordinator: Alejandra Daruich, MD, PhD
• Email: alejandra.daruich-matet@aphp.fr
• Phone: 1 44 38 19 69

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Expansion of a genetic and data repository for rare eye diseases

  This study is collecting genetic and health information from people with rare eye diseases like Aniridia and Best disease, along with their family members, to help improve understanding and treatment options for these conditions.

  Recruiting at 2 sites National Institutes of Health Clinical Center (CC) · Bethesda, Maryland and 1 other locations · NCT06491615

• National cohort for congenital eye defects

  This study looks at how congenital eye defects affect vision and development in newborns, children, and adults over ten years to help improve care for those with these conditions.

  Recruiting Institut National de la Santé Et de la Recherche Médicale, France · Paris, Île-de-France Region · NCT05954403

• Comparing healing effects of growth factor-rich plasma and autologous serum in aniridia patients

  This study is testing whether growth factor-rich plasma or autologous serum helps heal the eyes better in people with aniridia, a condition that causes corneal scarring.

  Recruiting Fondation Ophtalmologique Adolphe de Rothschild · Paris · NCT05400590

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.